| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy, progressive, infantile-onset, with or without deafness | |
| | | Single nucleotide variant (missense variant) | KARS1-related condition | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease recessive intermediate B +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy, progressive, infantile-onset, with or without deafness +1 more | GConflicting classifications of pathogenicity |
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